Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
SAMHD1
Genes >

SAMHD1

On this page:

Reviewed July 2010

What is the official name of the SAMHD1 gene?

The official name of this gene is “SAM domain and HD domain 1.”

SAMHD1 is the gene's official symbol. The SAMHD1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SAMHD1 gene?

The SAMHD1 gene provides instructions for making a protein whose function is not well understood. The SAMHD1 protein is believed to be involved in the immune system, including the inflammatory process and response to viral infections.

How are changes in the SAMHD1 gene related to health conditions?

Aicardi-Goutieres syndrome - caused by mutations in the SAMHD1 gene

At least 16 mutations in the SAMHD1 gene have been identified in people with Aicardi-Goutieres syndrome. Mutations in this gene likely result in a SAMHD1 protein that does not function properly. It is not known how this protein dysfunction leads to immune system abnormalities, inflammatory damage to the brain and skin, and other characteristics of Aicardi-Goutieres syndrome.

Where is the SAMHD1 gene located?

Cytogenetic Location: 20pter-q12

Molecular Location on chromosome 20: base pairs 35,520,226 to 35,580,245

The SAMHD1 gene is located on chromosome 20 between the short (p) arm at the end (terminus) of the arm and the long (q) arm at position 12.

The SAMHD1 gene is located on chromosome 20 between the short (p) arm at the end (terminus) of the arm and the long (q) arm at position 12.

More precisely, the SAMHD1 gene is located from base pair 35,520,226 to base pair 35,580,245 on chromosome 20.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SAMHD1?

You and your healthcare professional may find the following resources about SAMHD1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SAMHD1 gene or gene products?

  • AGS5
  • DCIP
  • dendritic cell-derived IFNG-induced protein
  • HDDC1
  • Mg11
  • monocyte protein 5
  • MOP-5
  • SAM domain and HD domain-containing protein 1
  • SAMH1_HUMAN
  • SBBI88

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SAMHD1?

cell ; dendritic cell ; domain ; gene ; immune system ; monocyte ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (6 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: July 2010
Published: May 20, 2013